Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33007157G= , CM000668.2:g.33007157G= | GRCh38 |
| NC_000006.11:g.32974934G= , CM000668.1:g.32974934G= | GRCh37 |
| NC_000006.10:g.33082912G= | NCBI36 |
| NG_012007.1:g.7456C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.672C= MANE Select | ENSP00000229829.3:p.Gly224= | |
| ENST00000229829.6:c.672C= | ENSP00000229829.3:p.Gly224= | |
| ENST00000450833.3:c.*485C= | ENSP00000403896.3:n.*485C= | |
| ENST00000485901.1:n.478C= | ||
| ENST00000490305.5:n.90C= | ||
| NM_002119.3:c.672C= | NP_002110.1:p.Gly224= | |
| XM_005249047.3:c.629C= | XP_005249104.1:p.Ala210= | |
| XM_006715076.2:c.582C= | XP_006715139.1:p.Gly194= | |
| XM_011514558.1:c.390C= | XP_011512860.1:p.Gly130= | |
| NM_002119.4:c.672C= MANE Select | NP_002110.1:p.Gly224= |